Jefferies JL - Search Results

1

Rare DNA copy number variants in cardiovascular malformations with extracardiac abnormalities.

Lalani SR, Shaw C, Wang X, Patel A, Patterson LW, Kolodziejska K, Szafranski P, Ou Z, Tian Q, Kang SH, Jinnah A, Ali S, Malik A, Hixson P, Potocki L, Lupski JR, Stankiewicz P, Bacino CA, Dawson B, Beaudet AL, Boricha FM, Whittaker R, Li C, Ware SM, Cheung SW, Penny DJ, Jefferies JL, Belmont JW. Lalani SR, et al. Among authors: jefferies jl. Eur J Hum Genet. 2013 Feb;21(2):173-81. doi: 10.1038/ejhg.2012.155. Epub 2012 Aug 29. Eur J Hum Genet. 2013. PMID: 22929023 Free PMC article.

2

Genetic predictors and remodeling of dilated cardiomyopathy in muscular dystrophy.

Jefferies JL, Eidem BW, Belmont JW, Craigen WJ, Ware SM, Fernbach SD, Neish SR, Smith EO, Towbin JA. Jefferies JL, et al. Circulation. 2005 Nov 1;112(18):2799-804. doi: 10.1161/CIRCULATIONAHA.104.528281. Epub 2005 Oct 24. Circulation. 2005. PMID: 16246949

3

Identification and functional characterization of NODAL rare variants in heterotaxy and isolated cardiovascular malformations.

Mohapatra B, Casey B, Li H, Ho-Dawson T, Smith L, Fernbach SD, Molinari L, Niesh SR, Jefferies JL, Craigen WJ, Towbin JA, Belmont JW, Ware SM. Mohapatra B, et al. Among authors: jefferies jl. Hum Mol Genet. 2009 Mar 1;18(5):861-71. doi: 10.1093/hmg/ddn411. Epub 2008 Dec 8. Hum Mol Genet. 2009. PMID: 19064609 Free PMC article.

4

The Twiddling Andersen.

Jefferies JL, Kim JJ, Belmont JW, Friedman RA. Jefferies JL, et al. Tex Heart Inst J. 2009;36(4):349-51. Tex Heart Inst J. 2009. PMID: 19693314 Free PMC article.

5

PTPN11 mutation associated with aortic dilation and hypertrophic cardiomyopathy in a pediatric patient with Noonan syndrome.

Jefferies JL, Belmont JW, Pignatelli R, Towbin JA, Craigen WJ. Jefferies JL, et al. Pediatr Cardiol. 2010 Jan;31(1):114-6. doi: 10.1007/s00246-009-9537-8. Epub 2009 Oct 1. Pediatr Cardiol. 2010. PMID: 19795160

6

Novel cardiac findings in periventricular nodular heterotopia.

Jefferies JL, Taylor MD, Rossano J, Belmont JW, Craigen WJ. Jefferies JL, et al. Am J Med Genet A. 2010 Jan;152A(1):165-8. doi: 10.1002/ajmg.a.33110. Am J Med Genet A. 2010. PMID: 20014127

7

Heart transplants in pediatric patients: viral infection as a loss predictor.

Towbin JA, Ware SM, Jefferies JL. Towbin JA, et al. Among authors: jefferies jl. Future Cardiol. 2010 Nov;6(6):735-41. doi: 10.2217/fca.10.105. Future Cardiol. 2010. PMID: 21142627 Review. No abstract available.

8

Genetic disorders with both hearing loss and cardiovascular abnormalities.

Belmont JW, Craigen W, Martinez H, Jefferies JL. Belmont JW, et al. Among authors: jefferies jl. Adv Otorhinolaryngol. 2011;70:66-74. doi: 10.1159/000322474. Epub 2011 Feb 24. Adv Otorhinolaryngol. 2011. PMID: 21358187 Review.

9

Dilation of the aortic root in mitochondrial disease patients.

Brunetti-Pierri N, Pignatelli R, Fouladi N, Towbin JA, Belmont JW, Craigen WJ, Wong LJ, Jefferies JL, Scaglia F. Brunetti-Pierri N, et al. Among authors: jefferies jl. Mol Genet Metab. 2011 Jun;103(2):167-70. doi: 10.1016/j.ymgme.2011.02.007. Epub 2011 Feb 18. Mol Genet Metab. 2011. PMID: 21406331

10

Left ventricular noncompaction in Sotos syndrome.

Martinez HR, Belmont JW, Craigen WJ, Taylor MD, Jefferies JL. Martinez HR, et al. Among authors: jefferies jl. Am J Med Genet A. 2011 May;155A(5):1115-8. doi: 10.1002/ajmg.a.33838. Epub 2011 Apr 11. Am J Med Genet A. 2011. PMID: 21484993

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